Anne van Riesen

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Clare V. Logan, Barbara Lucke, Caroline Pottinger et al. · Nature Genetics · 2011 · 110 citations

Developmental Biology, Disease Mechanism, Genetic Disorder +10

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Hiromi Hirata, Indrajit Nanda, Anne van Riesen et al. · The American Journal of Human Genetics · 2013 · 90 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Ellen Knierim, Hiromi Hirata, Nicole I. Wolf et al. · The American Journal of Human Genetics · 2016 · 72 citations · Full text

Spinal Cord Injury, Developmental Biology, Bone Morphogenic Protein +7

Motor and functional outcome of selective dorsal rhizotomy in children with spastic diplegia at 12 and 24 months of follow-up

Tarik Alp Sargut, Hannes Haberl, Simone Wolter et al. · Acta Neurochirurgica · 2021 · 16 citations · Full text

Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant

Luisa Averdunk, Sandra Donkervoort, Denise Horn et al. · Neuropediatrics · 2022 · 10 citations · Full text